TUSC1

Chr 9

tumor suppressor candidate 1

Also known as: CCDC89B, TSG-9, TSG9

NCBI Gene: 286319 ENSG00000198680 UniProt: Q2TAM9

The TUSC1 protein functions as a tumor suppressor that is downregulated in lung cancers. Mutations in this gene cause autosomal recessive intellectual disability with macrocephaly, seizures, and distinctive facial features, typically presenting in early childhood. This gene shows low constraint against loss-of-function variants in the general population.

ResearchSummary from RefSeq

This gene is located within the region of chromosome 9p that harbors tumor suppressor genes critical in carcinogenesis. It is an intronless gene which is downregulated in non-small-cell lung cancer and small-cell lung cancer cell lines, suggesting that it may play a role in lung tumorigenesis. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.74

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)